Canonical Allele Identifier: CA386163834

Gene: SLC25A3

Linked Data

• MyVariant Identifiers: chr12:g.98989270A>T (hg19) ; chr12:g.98595492A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.98595492A>T , CM000674.2:g.98595492A>T	GRCh38
NC_000012.11:g.98989270A>T , CM000674.1:g.98989270A>T	GRCh37
NC_000012.10:g.97513401A>T	NCBI36
NG_011702.1:g.6868A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000228318.8:c.217A>T MANE Plus Clinical	ENSP00000228318.3:p.Ile73Phe
ENST00000552981.6:c.158-235A>T MANE Select	ENSP00000448708.2:n.158-235A>T
ENST00000188376.9:c.158-235A>T	ENSP00000188376.5:n.158-235A>T
ENST00000228318.7:c.217A>T	ENSP00000228318.3:p.Ile73Phe
ENST00000401722.7:c.158-235A>T	ENSP00000383898.3:n.158-235A>T
ENST00000546766.5:n.1604A>T
ENST00000547534.5:c.158-235A>T	ENSP00000449793.1:n.158-235A>T
ENST00000548046.5:c.217A>T	ENSP00000447339.1:p.Ile73Phe
ENST00000548847.1:c.158-235A>T	ENSP00000449166.1:n.158-235A>T
ENST00000549338.5:c.158-235A>T	ENSP00000447740.1:n.158-235A>T
ENST00000550695.1:c.217A>T	ENSP00000449479.1:p.Ile73Phe
ENST00000551123.5:c.217A>T	ENSP00000449009.1:p.Ile73Phe
ENST00000551917.5:c.217A>T	ENSP00000447310.1:p.Ile73Phe
ENST00000552981.5:c.158-235A>T	ENSP00000448708.1:n.158-235A>T
NM_002635.3:c.158-235A>T	NP_002626.1:n.158-235A>T
NM_005888.3:c.217A>T	NP_005879.1:p.Ile73Phe
NM_213611.2:c.158-235A>T	NP_998776.1:n.158-235A>T
NM_002635.4:c.158-235A>T MANE Select	NP_002626.1:n.158-235A>T
NM_213611.3:c.158-235A>T	NP_998776.1:n.158-235A>T
NM_005888.4:c.217A>T MANE Plus Clinical	NP_005879.1:p.Ile73Phe